MovDisordV3, Main, Exploration, bibRecord, 001859

The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

Identifieur interne : 001859 ( Main/Exploration ); précédent : 001858; suivant : 001860

The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

Auteurs : Ji Klempir [République tchèque] ; Jana Zidovska [République tchèque] ; Jan Stochl [Royaume-Uni] ; Vera Kebrdlova [République tchèque] ; Tereza Uhrova [République tchèque] ; Jan Roth [République tchèque]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0143231

Descripteurs français

Pascal (Inist)
- Chorée de Huntington, Pathologie du système nerveux, Age apparition, Triplet.

English descriptors

KwdEn :
- Age of onset, Huntington disease, Nervous system diseases, Triplet.

Abstract

Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P < 0.0001), the regression model explained only 28% of the variance of the age at onset related to the effect of the number of CAG repeats within normal allele. Within the groups of patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset. Furthermore, when analyzing subgroups of patients with the same allelic composition on both alleles, we failed to observe any correlation with the age at the onset. Our analysis gives no corroboration to the idea of a normal allele having a share in the modification of the age at HD onset. We believe that with the current state of knowledge it is not possible to devise a mathematical model for HD onset prediction because too many entirely unknown modifying factors are still involved.

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P < 0.0001), the regression model explained only 28% of the variance of the age at onset related to the effect of the number of CAG repeats within normal allele. Within the groups of patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset. Furthermore, when analyzing subgroups of patients with the same allelic composition on both alleles, we failed to observe any correlation with the age at the onset. Our analysis gives no corroboration to the idea of a normal allele having a share in the modification of the age at HD onset. We believe that with the current state of knowledge it is not possible to devise a mathematical model for HD onset prediction because too many entirely unknown modifying factors are still involved.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri